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Misdiagnosis and delay in referral of children with localized scleroderma


  • Funding sources
    L.W. was supported by nonrestricted grants from the Stiefel-Zangger Foundation and UBS Foundation of the University Children’s Hospital Zurich.

  • Conflicts of interest
    None declared.

Lisa Weibel.


Summary Background  Localized scleroderma (LS) usually begins in childhood with a broad clinical spectrum and the diagnosis is often delayed.

Objectives  To investigate the diagnostic pathway in a large cohort of paediatric patients with LS, to identify the duration until correct diagnosis and to characterize clinical clues for early diagnosis.

Methods  A retrospective case note review of 50 children with LS.

Results  The median (range) age at disease onset was 5·2 (0·1–14·4) years and disease duration until diagnosis 11·1 (1·8–79) months. The patients were first seen by a general practitioner (or paediatrician) after 1·2 (0·2–48·7) months and in none of the cases was the condition recognized at presentation according to a parental questionnaire (no diagnosis in 44%, misdiagnosis of atopic eczema 20%, melanocytic naevus 8%, fungal infection 6%, bruise 4%, varicose vein 4%, bacterial infection 4% and others). The patients were referred to a local specialist (dermatologist in 72%) after a disease duration of 7·5 (1·0–70·9) months and in 64% the correct diagnosis was established. In 20% the diagnosis remained unknown, 8% were misdiagnosed as port-wine stains and others as atopic eczema and melanocytic naevus. The correct diagnosis was eventually identified by the referring dermatologists, the paediatric dermatologists at our hospital, external maxillofacial surgeons and a paediatrician in 29 (58%), 17 (34%), 3 (6%) and 1 (2%), respectively. Histology was performed in 15 (30%). The patients were commenced on appropriate treatment after a disease duration of 16·6 (1·8–113·4) months. The main clinical diagnostic clues were: Blaschko-linear distribution 76%, atrophic changes 68%, skin fibrosis 40% and loss of scalp hair or eyelashes 36%.

Conclusions  Physicians involved in the care of these children need to be aware of the characteristic clinical appearance of LS for early recognition and prompt initiation of treatment.